6 citations
,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
32 citations
,
September 2015 in “Dermatology” Certain leukemia drugs can cause severe skin reactions that may require stopping treatment.
September 2017 in “Journal of Investigative Dermatology Symposium Proceedings” Non-melanoma skin cancer in darker-skinned people can be misdiagnosed, so doctors need to be more aware to diagnose it correctly and early.
January 2025 in “Indian Dermatology Online Journal” Treatment reduced cystic lesions but didn't change existing Nevus Comedonicus.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
2 citations
,
December 2013 in “Veterinary dermatology” Three dogs with a rare skin condition improved with treatment.
November 2019 in “European journal of internal medicine” A Laotian man with unusual skin changes and multiple growths in his gut was diagnosed with Cronkhite-Canada Syndrome and improved with nutritional and immune-based treatments.
10 citations
,
November 2017 in “Journal of Investigative Dermatology” A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
2 citations
,
May 2023 in “Indian Journal of Dermatology Venereology and Leprology” A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
January 1981 in “Purdue e-Pubs (Purdue University)” Pig skin is similar to human skin, with no major changes as they age.
4 citations
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August 2013 in “Chinese Medical Journal” A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
Vitamin D affects skin conditions like atopic dermatitis, psoriasis, and seborrheic dermatitis.
June 2021 in “Dermatology Online Journal” A girl with a rare genetic condition affecting hair and nails also developed a common type of hair loss, suggesting a possible genetic link.
96 citations
,
December 1995 in “Journal of Investigative Dermatology” October 2025 in “Indian Journal of Paediatric Dermatology” Trichoscopy is a helpful tool for diagnosing Netherton syndrome.
3 citations
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May 2024 in “International Journal of Dermatology” Pediatric pemphigus is often diagnosed late, but rituximab helps control it long-term.
Calcipotriene ointment improved a child's skin condition known as En coup de sabre.
A white-tailed deer fawn in South Dakota was the first cervid found with congenital hypotrichosis, a condition causing sparse or missing hair.
April 2016 in “Journal of the American Academy of Dermatology” A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
January 2016 in “SpringerBriefs in bioengineering” Genetic defects and UV radiation cause skin damage and aging.
32 citations
,
April 1994 in “Journal of the American Academy of Dermatology” High androgen levels and genetic factors likely cause Becker's nevus and related symptoms.
1 citations
,
December 2023 in “Indian Dermatology Online Journal” Steatocystoma multiplex causes recurring skin cysts and needs early recognition for better management.
14 citations
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September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
1 citations
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May 2022 in “International journal of molecular sciences” Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
2 citations
,
October 2023 in “PubMed” Scientists created a cell model to study and find treatments for a skin disease called RDEB.
38 citations
,
March 2010 in “Medicine” Most patients with Porphyria Cutanea Tarda had skin blisters and were often affected by hepatitis C and alcohol abuse, with differences between familial and sporadic cases.
24 citations
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November 1992 in “Journal of the American Academy of Dermatology” Early diagnosis and aggressive treatment are crucial for better outcomes in lymphomatoid granulomatosis.
October 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Early regulatory T cells are crucial for normal skin pigmentation.
4 citations
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May 1994 in “Neurology” The boy had a unique condition with seizures, uneven hair loss, and an enlarged brain hemisphere.